| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs116450347 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
| rs199867882 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs201893545 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs267606874 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
| rs267606875 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs267606876 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs371805004 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs567795716 |
A>-,AA |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs713993049 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs749723076 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs754995805 |
->TTCATCACCTAAAA |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, intron variant |
| rs758291149 |
A>G,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs763295314 |
A>C |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs766305807 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs768660614 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs770339774 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs776740276 |
C>A |
Pathogenic |
Splice acceptor variant |
| rs786205564 |
C>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
| rs786205565 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs878853357 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs878853358 |
AC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1276845142 |
T>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1409688898 |
G>C |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1553681348 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1553681433 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1553681434 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1553687058 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1553687118 |
A>T |
Pathogenic |
Splice donor variant |
| rs1559642470 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |